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المؤلفون: Virginia Fano, Karen E. Heath, Mariana del Pino, David Medino-Martín, Abel Gomez, Miriam Aza-Carmona, María Gabriela Obregon
المصدر: J Pediatr Genet
مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, 030305 genetics & heredity, medicine.disease, Sitting height, 03 medical and health sciences, Shox gene, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, New mutation, Cohort, Medicine, SHOX Deficiency, Growth delay, business, Léri–Weill dyschondrosteosis, 030217 neurology & neurosurgery, Genetics (clinical), Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b503a5e02233843fe4d4c7ec1e2c6331Test
https://doi.org/10.1055/s-0039-1691788Test -
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المؤلفون: B. Röthlisberger, B. Steiner, T. Schmitt-Mechelke, S. Jünemann
المصدر: Neuropediatrics. 46
مصطلحات موضوعية: Drug, business.industry, media_common.quotation_subject, Pediatrics, Perinatology and Child Health, New mutation, Medicine, Neurology (clinical), General Medicine, Bioinformatics, business, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d30b57468aa5eb28c787a818303609e9Test
https://doi.org/10.1055/s-0035-1550724Test -
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المؤلفون: A. Fiedler, A. Abicht, K. Abredat
المصدر: Neuropediatrics. 45
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, New mutation, Medicine, Neurology (clinical), General Medicine, business, medicine.disease, Gene, Porencephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::337c2541fa7410e4609e60a693e19492Test
https://doi.org/10.1055/s-0034-1390573Test -
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المؤلفون: Zs. Gerlei, Peter Horvath, A Krolopp, J Kósa, P. Lakatos, M Szathmári, Anikó Folhoffer, Dénes Görög, Ferenc Szalay, Kristóf Árvai, D Németh, László Kóbori
المصدر: Zeitschrift für Gastroenterologie. 52
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Atp7b gene, business.industry, Internal medicine, New mutation, Gastroenterology, Medicine, Acute on chronic liver failure, Ion semiconductor sequencing, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::46820e305d8ba20637b4c05550d5e8f4Test
https://doi.org/10.1055/s-0034-1376107Test -
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المؤلفون: Christine Gaucher, Anne-Sophie Ribba, Lysiane Hilbert, Sylvie Jorieux, Claudine Mazurier, Jean-Maurice Lavergne, Dominique Meyer, Edith Fressinaud
المصدر: Thrombosis and Haemostasis. 78:451-456
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Hematology, Biology, medicine.disease, medicine.disease_cause, Phenotype, Pathogenesis, hemic and lymphatic diseases, Genotype, New mutation, Coagulopathy, medicine, Von Willebrand disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fec2413c07b76a2c9782bb1a27f57a3bTest
https://doi.org/10.1055/s-0038-1657568Test -
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المؤلفون: K Weigt-Usinger, N Janzen, G Dekomien, Charlotte Thiels, Matthias Vorgerd, M Deschauer, T. Lücke, Christoph M. Heyer, P Lohse, Joachim Weis, C. Köhler
المصدر: Neuropediatrics. 44
مصطلحات موضوعية: Genetics, Neutral lipid storage disease, Pediatrics, Perinatology and Child Health, New mutation, medicine, Neurology (clinical), General Medicine, medicine.symptom, Biology, Myopathy, medicine.disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1bde0286217704f77194ce86c2e4e721Test
https://doi.org/10.1055/s-0033-1337823Test -
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المؤلفون: Marschall C, Schmidt H, Siegert T, Klein Hg
المصدر: Klinische Pädiatrie. 216:91-93
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, business.industry, Dental enamel, Point mutation, Case presentation, medicine.disease, Sclera, stomatognathic diseases, Osteogenesis imperfecta type I, medicine.anatomical_structure, stomatognathic system, Osteogenesis imperfecta, Clinical diagnosis, Pediatrics, Perinatology and Child Health, New mutation, medicine, sense organs, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2034f320a61fb9875da7c7f912d8f89dTest
https://doi.org/10.1055/s-2004-823144Test -
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المؤلفون: K Weigt-Usinger, Charlotte Thiels, C Sutter, T. Lücke, C. Köhler
المصدر: Neuropediatrics. 43
مصطلحات موضوعية: Genetics, medicine.anatomical_structure, Mild phenotype, business.industry, Pediatrics, Perinatology and Child Health, New mutation, medicine, Neurology (clinical), General Medicine, TSC1, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7b96c8a4a54f1116a58f6e45db4bd4afTest
https://doi.org/10.1055/s-0032-1307090Test -
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المؤلفون: S Salamat, Horst Buxmann, Rolf Schloesser, Doris Fischer, Antje Allendorf
المصدر: Klinische Pädiatrie. 222
مصطلحات موضوعية: Hereditary protein S deficiency, business.industry, Pediatrics, Perinatology and Child Health, Immunology, New mutation, Medicine, PROS1 Gene, business, Term neonates
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2efb39583d098391d7fbd70dc088d46bTest
https://doi.org/10.1055/s-0030-1261588Test -
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المؤلفون: S Vogelgesang, Elisabeth Spilcke-Liss, S Rondot, H. Wallaschofski
المصدر: Experimental and Clinical Endocrinology & Diabetes. 115
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, New mutation, Female patient, Internal Medicine, medicine, General Medicine, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb71d4318080a339bd51e2cd4a0cc9daTest
https://doi.org/10.1055/s-2007-972356Test